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Publications

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2016
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation., Gordon, Adam S., Fulton Robert S., Qin Xiang, Mardis Elaine R., Nickerson Deborah A., and Scherer Steve , Pharmacogenetics and genomics, 2016 Jan 5, (2016) Abstract
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1., Soens, Zachry T., Li Yuanyuan, Zhao Li, Eblimit Aiden, Dharmat Rachayata, Li Yumei, Chen Yiyun, Naqeeb Mohammed, Fajardo Norma, Lopez Irma, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Jan 28, (2016) Abstract
Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation., Gingras, Marie-Claude, Covington Kyle R., Chang David K., Donehower Lawrence A., Gill Anthony J., Ittmann Michael M., Creighton Chad J., Johns Amber L., Shinbrot Eve, Dewal Ninad, et al. , Cell reports, 2016 Jan 19, (2016) Abstract
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations., Lalani, Seema R., Liu Pengfei, Rosenfeld Jill A., Watkin Levi B., Chiang Theodore, Leduc Magalie S., Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, et al. , American journal of human genetics, 2016 Jan 19, (2016) Abstract
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines., Chhibber, A., French C. E., Yee S. W., Gamazon E. R., Theusch E., Qin X., Webb A., Papp A. C., Wang A., Simmons C. Q., et al. , The pharmacogenomics journal, 2016 Feb 9, (2016) Abstract
Genomic analyses identify molecular subtypes of pancreatic cancer., Bailey, Peter, Chang David K., Nones Katia, Johns Amber L., Patch Ann-Marie, Gingras Marie-Claude, Miller David K., Christ Angelika N., Bruxner Tim J. C., Quinn Michael C., et al. , Nature, 2016 Feb 24, (2016) Abstract
Sources of variation in hair cortisol in wild and captive non-human primates., Fourie, Nicolaas H., Brown Janine L., Jolly Clifford J., Phillips-Conroy Jane E., Rogers Jeffrey, and Bernstein Robin M. , Zoology (Jena, Germany), 2016 Feb 2, (2016) Abstract
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis., Gomez-Ospina, Natalia, Potter Carol J., Xiao Rui, Manickam Kandamurugu, Kim Mi-Sun, Kim Kang Ho, Shneider Benjamin L., Picarsic Jennifer L., Jacobson Theodora A., Zhang Jing, et al. , Nature communications, 2016, Volume 7, p.10713, (2016) Abstract
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity., Tajiguli, Abulikemu, Xu Mingchu, Fu Qing, Yiming Rouzimaimaiti, Wang Keqing, Li Yumei, Eblimit Aiden, Sui Ruifang, Chen Rui, and Aisa Haji Akber , Scientific reports, 2016, Volume 6, p.21384, (2016) Abstract
POGZ truncating alleles cause syndromic intellectual disability., White, Janson, Beck Christine R., Harel Tamar, Posey Jennifer E., Jhangiani Shalini N., Tang Sha, Farwell Kelly D., Powis Zöe, Mendelsohn Nancy J., Baker Janice A., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.3, (2016) Abstract
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome., Benoit, Joshua B., Adelman Zach N., Reinhardt Klaus, Dolan Amanda, Poelchau Monica, Jennings Emily C., Szuter Elise M., Hagan Richard W., Gujar Hemant, Shukla Jayendra Nath, et al. , Nature communications, 2016, Volume 7, p.10165, (2016) Abstract
2015
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection., Bailey, Adam L., Lauck Michael, Mohns Mariel, Peterson Eric J., Beheler Kerry, Brunner Kevin G., Crosno Kristin, Mejia Andres, Mutschler James, Gehrke Matthew, et al. , Science translational medicine, 2015 Sep 16, Volume 7, Issue 305, p.305ra144, (2015) Abstract
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF., Huffman, Jennifer E., de Vries Paul S., Morrison Alanna C., Sabater-Lleal Maria, Kacprowski Tim, Auer Paul L., Brody Jennifer A., Chasman Daniel I., Chen Ming-Huei, Guo Xiuqing, et al. , Blood, 2015 Sep 10, Volume 126, Issue 11, p.e19-29, (2015) Abstract
Androgen receptor promotes tamoxifen agonist activity by activation of EGFR in ERα-positive breast cancer., Ciupek, Andrew, Rechoum Yassine, Gu Guowei, Gelsomino Luca, Beyer Amanda R., Brusco Lauren, Covington Kyle R., Tsimelzon Anna, and Fuqua Suzanne A. W. , Breast cancer research and treatment, 2015 Oct 20, (2015) Abstract
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery., Philippakis, Anthony A., Azzariti Danielle R., Beltran Sergi, Brookes Anthony J., Brownstein Catherine A., Brudno Michael, Brunner Han G., Buske Orion J., Carey Knox, Doll Cassie, et al. , Human mutation, 2015 Oct, Volume 36, Issue 10, p.915-21, (2015) Abstract
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease., Karaca, Ender, Harel Tamar, Pehlivan Davut, Jhangiani Shalini N., Gambin Tomasz, Akdemir Zeynep Coban, Gonzaga-Jauregui Claudia, Erdin Serkan, Bayram Yavuz, Campbell Ian M., et al. , Neuron, 2015 Nov 4, Volume 88, Issue 3, p.499-513, (2015) Abstract
Comparative genomic study of arachnid immune systems indicates loss of βGRPs and the IMD pathway., Bechsgaard, Jesper, Vanthournout Bram, Funch Peter, Vestbo Stine, Gibbs Richard A., Richards Stephen, Sanggaard Kristian W., Enghild Jan J., and Bilde Trine , Journal of evolutionary biology, 2015 Nov 3, (2015) Abstract
Hemichordate genomes and deuterostome origins., Simakov, Oleg, Kawashima Takeshi, Marlétaz Ferdinand, Jenkins Jerry, Koyanagi Ryo, Mitros Therese, Hisata Kanako, Bredeson Jessen, Shoguchi Eiichi, Gyoja Fuki, et al. , Nature, 2015 Nov 26, Volume 527, Issue 7579, p.459-65, (2015) Abstract
Reorganization and expansion of the nidoviral family Arteriviridae., Kuhn, Jens H., Lauck Michael, Bailey Adam L., Shchetinin Alexey M., Vishnevskaya Tatyana V., Bào Yīmíng, Ng Terry Fei Fan, LeBreton Matthew, Schneider Bradley S., Gillis Amethyst, et al. , Archives of virology, 2015 Nov 25, (2015) Abstract
Whole-Exome Sequencing in Familial Parkinson Disease., Farlow, Janice L., Robak Laurie A., Hetrick Kurt, Bowling Kevin, Boerwinkle Eric, Coban-Akdemir Zeynep H., Gambin Tomasz, Gibbs Richard A., Gu Shen, Jain Preti, et al. , JAMA neurology, 2015 Nov 23, p.1-8, (2015) Abstract
Zoonotic Potential of Simian Arteriviruses., Bailey, Adam L., Lauck Michael, Sibley Samuel D., Friedrich Thomas C., Kuhn Jens H., Freimer Nelson B., Jasinska Anna J., Phillips-Conroy Jane E., Jolly Clifford J., Marx Preston A., et al. , Journal of virology, 2015 Nov 11, (2015) Abstract
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair., Day, Felix R., Ruth Katherine S., Thompson Deborah J., Lunetta Kathryn L., Pervjakova Natalia, Chasman Daniel I., Stolk Lisette, Finucane Hilary K., Sulem Patrick, Bulik-Sullivan Brendan, et al. , Nature genetics, 2015 Nov, Volume 47, Issue 11, p.1294-303, (2015) Abstract
A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor., Zhao, Chaoyang, Escalante Lucio Navarro, Chen Hang, Benatti Thiago R., Qu Jiaxin, Chellapilla Sanjay, Waterhouse Robert M., Wheeler David, Andersson Martin N., Bao Riyue, et al. , Current biology : CB, 2015 Mar 2, Volume 25, Issue 5, p.613-20, (2015) Abstract
Convergent evolution of the genomes of marine mammals., Foote, Andrew D., Liu Yue, Thomas Gregg W. C., Vinař Tomáš, Alföldi Jessica, Deng Jixin, Dugan Shannon, van Elk Cornelis E., Hunter Margaret E., Joshi Vandita, et al. , Nature genetics, 2015 Mar, Volume 47, Issue 3, p.272-5, (2015) Abstract


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